Canonical Allele Identifier: CA411800418

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42630917-C-G
• MyVariant Identifiers: chr22:g.43026923C>G (hg19) ; chr22:g.42630917C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42630917C>G , CM000684.2:g.42630917C>G	GRCh38
NC_000022.10:g.43026923C>G , CM000684.1:g.43026923C>G	GRCh37
NC_000022.9:g.41356867C>G	NCBI36
NG_012194.1:g.23483G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.298G>C	ENSP00000354468.5:p.Asp100His
ENST00000402438.6:c.229G>C	ENSP00000385679.1:p.Asp77His
ENST00000407332.6:c.316G>C	ENSP00000384457.2:p.Asp106His
ENST00000407623.8:c.229G>C	ENSP00000384834.3:p.Asp77His
ENST00000438270.2:c.229G>C	ENSP00000403439.2:p.Asp77His
ENST00000466276.2:n.365G>C
ENST00000686129.1:c.229G>C	ENSP00000508623.1:p.Asp77His
ENST00000686523.1:c.*247G>C	ENSP00000508940.1:n.*247G>C
ENST00000687183.1:n.359G>C
ENST00000687198.1:c.229G>C	ENSP00000508492.1:p.Asp77His
ENST00000688117.1:c.397G>C	ENSP00000509015.1:p.Asp133His
ENST00000688244.1:c.298G>C	ENSP00000510355.1:p.Asp100His
ENST00000689001.1:n.705G>C
ENST00000689195.1:c.298G>C	ENSP00000509895.1:p.Asp100His
ENST00000689239.1:n.465G>C
ENST00000689795.1:n.460G>C
ENST00000690835.1:c.298G>C	ENSP00000509038.1:p.Asp100His
ENST00000690993.1:n.375G>C
ENST00000691295.1:c.298G>C	ENSP00000508706.1:p.Asp100His
ENST00000691918.1:c.277G>C	ENSP00000509525.1:p.Asp93His
ENST00000692152.1:c.229G>C	ENSP00000509317.1:p.Asp77His
ENST00000692344.1:n.322G>C
ENST00000693157.1:c.218G>C	ENSP00000510610.1:n.218G>C
ENST00000693363.1:c.298G>C	ENSP00000510411.1:p.Asp100His
ENST00000693367.1:c.298G>C	ENSP00000508815.1:p.Asp100His
ENST00000693639.1:c.291G>C	ENSP00000510223.1:p.Ala97=
ENST00000693646.1:c.204G>C	ENSP00000508449.1:p.Ala68=
ENST00000693716.1:n.526G>C
ENST00000352397.10:c.298G>C MANE Select	ENSP00000338461.6:p.Asp100His
ENST00000352397.9:c.298G>C	ENSP00000338461.6:p.Asp100His
ENST00000361740.8:c.397G>C	ENSP00000354468.4:p.Asp133His
ENST00000402438.5:c.229G>C	ENSP00000385679.1:p.Asp77His
ENST00000407332.5:c.229G>C	ENSP00000384457.1:p.Asp77His
ENST00000407623.7:c.229G>C	ENSP00000384834.3:p.Asp77His
ENST00000438270.1:c.229G>C	ENSP00000403439.1:p.Asp77His
ENST00000470741.1:n.2432G>C
NM_000398.6:c.298G>C	NP_000389.1:p.Asp100His
NM_001129819.2:c.229G>C	NP_001123291.1:p.Asp77His
NM_001171660.1:c.397G>C	NP_001165131.1:p.Asp133His
NM_001171661.1:c.229G>C	NP_001165132.1:p.Asp77His
NM_007326.4:c.229G>C	NP_015565.1:p.Asp77His
NM_000398.7:c.298G>C MANE Select	NP_000389.1:p.Asp100His
NM_001171660.2:c.397G>C	NP_001165131.1:p.Asp133His